Variant report

Variant	rs927221
Chromosome Location	chr14:68842160-68842161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68834081..68836635-chr14:68840807..68842526,2	MCF-7	breast:
2	chr14:68701861..68704813-chr14:68840694..68843501,2	MCF-7	breast:
3	chr14:68841263..68843280-chr14:68843376..68844919,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243546	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1006816	0.83[CEU][hapmap]
rs12432583	0.82[ASW][hapmap];0.90[CEU][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12435322	0.81[ASN][1000 genomes]
rs12890360	0.89[CEU][hapmap]
rs12894080	0.90[CEU][hapmap]
rs1885014	0.83[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1956537	0.83[CEU][hapmap]
rs2025009	0.83[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2331693	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2331694	0.90[CEU][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2877461	0.83[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3784113	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3784115	0.83[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3784117	0.90[CEU][hapmap]
rs3784120	0.83[CEU][hapmap]
rs4902574	0.80[CHD][hapmap];0.91[JPT][hapmap]
rs61986910	0.81[ASN][1000 genomes]
rs8018477	0.83[CHD][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs927221	ACTN1	cis	parietal	SCAN
rs927221	EXD2	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68831800-68844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:68832000-68843200	Weak transcription	Placenta	Placenta
3	chr14:68832000-68843800	Weak transcription	Ovary	ovary
4	chr14:68832000-68844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:68832000-68851600	Weak transcription	Lung	lung
6	chr14:68832200-68844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68832200-68844200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:68833000-68845200	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:68833600-68842200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:68834000-68843400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:68834400-68846400	Weak transcription	Fetal Heart	heart
12	chr14:68834600-68842200	Weak transcription	HSMM	muscle
13	chr14:68835200-68843600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:68835600-68843800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:68836400-68843200	Weak transcription	Spleen	Spleen
16	chr14:68836400-68847000	Weak transcription	Aorta	Aorta
17	chr14:68836800-68843200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:68836800-68843800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:68837200-68842400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:68837200-68843000	Weak transcription	Brain Substantia Nigra	brain
21	chr14:68837200-68843200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:68837400-68842600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:68837400-68842600	Weak transcription	Fetal Stomach	stomach
24	chr14:68837400-68842800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:68837400-68843200	Weak transcription	Fetal Kidney	kidney
26	chr14:68837400-68843600	Weak transcription	Fetal Intestine Large	intestine
27	chr14:68837400-68843600	Weak transcription	Fetal Intestine Small	intestine
28	chr14:68837400-68844000	Weak transcription	Stomach Mucosa	stomach
29	chr14:68839200-68843200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:68839200-68844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:68839400-68843000	Weak transcription	HepG2	liver
32	chr14:68839400-68844200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:68839600-68844000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:68839800-68844000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:68839800-68844000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:68839800-68844200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:68839800-68850600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:68840000-68842600	Weak transcription	Dnd41	blood
39	chr14:68840000-68845800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr14:68840400-68844200	Enhancers	Primary B cells from cord blood	blood
41	chr14:68840600-68842800	Enhancers	Primary T cells from cord blood	blood
42	chr14:68840600-68843600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:68840600-68847600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:68840600-68847800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:68840800-68844600	Enhancers	Fetal Muscle Leg	muscle
46	chr14:68840800-68845200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:68840800-68847400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr14:68840800-68847400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:68840800-68847600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr14:68840800-68847600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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